Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet.
J Pediatr
; 131(6): 932-4, 1997 Dec.
Article
em En
| MEDLINE
| ID: mdl-9427905
ABSTRACT
We report a 2-year-old boy with phosphofructokinase deficiency presenting in the newborn period with congenital arthrogryposis and severe myopathy, who has had significant improvement on a ketogenic diet since its institution at 4 months of age. We provide a rationale for use of this treatment and hypothesize it may be beneficial in other patients with phosphofructokinase deficiency and progressive muscular involvement. Confirmation awaits further clinical trials in carefully selected patients.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Artrogripose
/
Fosfofrutoquinase-1
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
1997
Tipo de documento:
Article
País de afiliação:
Estados Unidos